What Is DiGeorge Syndrome Life Expectancy?
Title: What Is DiGeorge Syndrome Life Expectancy?Category: Diseases and ConditionsCreated: 12/7/2021 12:00:00 AMLast Editorial Review: 12/7/2021 12:00:00 AM (Source: MedicineNet Kids Health General)
Source: MedicineNet Kids Health General - December 7, 2021 Category: Pediatrics Source Type: news

What Is DiGeorge Syndrome Life Expectancy
? (Source: eMedicineHealth.com)
Source: eMedicineHealth.com - June 25, 2021 Category: General Medicine Source Type: news

Can DiGeorge Syndrome Be Cured?
Title: Can DiGeorge Syndrome Be Cured?Category: Diseases and ConditionsCreated: 5/28/2021 12:00:00 AMLast Editorial Review: 5/28/2021 12:00:00 AM (Source: MedicineNet Kids Health General)
Source: MedicineNet Kids Health General - May 28, 2021 Category: Pediatrics Source Type: news

What Are Some Etiologies for Intellectual Disability?
Discussion “Intellectual disability (ID) is a neurodevelopmental disorder that is characterized by deficits in both intellectual functioning and adaptive function whose onset is in the development period.” Global developmental delay (GDD) is used to describe children from 0-5 years old with significant delays in 2 or more developmental areas. These delays may be transient but up to 2/3 of children with GDD will have ID. Overall 1-3% of the general population has ID which makes it very common. Most children with GDD/ID are identified because of delays in meeting milestones or general academic achievement. ID pat...
Source: PediatricEducation.org - May 3, 2021 Category: Pediatrics Authors: Pediatric Education Tags: Uncategorized Source Type: news

Identification of 16p11.q2 deletion syndrome on a child inpatient psychiatric unit: a case report and call for inpatient genetic testing - Gibbs W, Bell H, Ajith A, Sadtler K, Escuro K, Brooks D, Edwards S.
PURPOSE: This case highlights the importance of nursing-directed interprofessional treatment and inpatient unit genetic testing to identify genetic syndromes that may potentiate psychiatric conditions. SOURCES USED: A case study of a 10-year-old Cauc... (Source: SafetyLit)
Source: SafetyLit - January 4, 2021 Category: International Medicine & Public Health Tags: Age: Infants and Children Source Type: news

Upstate researchers involved in published work on finding schizophrenia and intellectual disability risk in 22q Deletion Syndrome patients
Wanda Fremont, MD, and Wendy Kates, PhD, among the authors of Nature Medicine study that focuses on the connections between 22q Deletion Syndrome and schizophrenia and intellectual disabilities (Source: SUNY Upstate Medical)
Source: SUNY Upstate Medical - November 23, 2020 Category: Universities & Medical Training Tags: News Source Type: news

Science News » NIH-funded Study Sheds Light on Abnormal Neural Function in Rare Genetic Disorder
A genetic study has identified neuronal abnormalities in the electrical activity of cortical cells derived from people with a rare genetic disorder called 22q11.2 deletion syndrome. (Source: National Institute of Mental Health)
Source: National Institute of Mental Health - September 29, 2020 Category: Psychiatry Authors: Claire Cole Source Type: news

NIH-funded study sheds light on abnormal neural function in rare genetic disorder
Findings show deficits in the electrical activity of cortical cells; possible targets for treatment for 22q11.2 deletion syndrome. (Source: National Institutes of Health (NIH) News Releases)
Source: National Institutes of Health (NIH) News Releases - September 28, 2020 Category: American Health Source Type: news

NIH-funded study sheds light on abnormal neural function in rare genetic disorder
(NIH/National Institute of Mental Health) A genetic study has identified neuronal abnormalities in the electrical activity of cortical cells derived from people with a rare genetic disorder called 22q11.2 deletion syndrome. The overexpression of a specific gene and exposure to several antipsychotic drugs helped restore normal cellular functioning. The study sheds light on factors that may contribute to the development of mental illnesses in 22q11.2 deletion syndrome and may help identify possible targets for treatment development. (Source: EurekAlert! - Social and Behavioral Science)
Source: EurekAlert! - Social and Behavioral Science - September 28, 2020 Category: International Medicine & Public Health Source Type: news

Study finds brain defects in people with a genetic risk for schizophrenia
FINDINGSAn international study led by researchers from the Jane and Terry Semel Institute for Neuroscience and Human Behavior at UCLA has found that people who are born with a genetic disease that greatly increases the risk of developing schizophrenia  have distinctive defects and deficiencies in the white matter of their brains. Researchers compared the brains of people with the genetic disorder, 22q11.2 deletion syndrome, to the brains of healthy people and to the brains of people with the disease who do not have schizophrenia.The brain ’s white matter connects different regions of the brain and allows neurons to c...
Source: UCLA Newsroom: Health Sciences - July 29, 2019 Category: Universities & Medical Training Source Type: news

3q29 deletion survey: distinct social profile, high ASD risk
(Emory Health Sciences) 3q29 deletion syndrome is a strong risk factor for both schizophrenia and autism spectrum disorder. People with the rare condition have a distinct neuropsychiatric profile, researchers found. (Source: EurekAlert! - Medicine and Health)
Source: EurekAlert! - Medicine and Health - July 19, 2019 Category: International Medicine & Public Health Source Type: news

Schizophrenia: Adolescence is the game-changer
(Universit é de Gen è ve) Schizophrenia may be related to the deletion syndrome. However, not everyone who has the syndrome necessarily develops psychotic symptoms. What triggers the illness? Researchers (UNIGE) have provided an initial answer after analysing several years of patients with deletion syndrome. They found that the size of the hippocampus was smaller than normal but followed the same developmental curve as in healthy subjects. Yet, when the first psychotic symptoms appear - generally in adolescence - the hippocampus atrophies dramatically. (Source: EurekAlert! - Social and Behavioral Science)
Source: EurekAlert! - Social and Behavioral Science - June 17, 2019 Category: International Medicine & Public Health Source Type: news

Toddler with rare condition crawls despite his mother being told he would never be able to 
Ethan Bothe, one years old, of North Carolina, has distal chromosome 18q deletion syndrome. Parents Jennifer and Kyle Bothe have been overwhelmed with his development. (Source: the Mail online | Health)
Source: the Mail online | Health - April 16, 2019 Category: Consumer Health News Source Type: news

Does She Have SCID?
Discussion Severe-combined immunodefiency (SCID) is actually a group of inherited disorders with an absence or dysfunction of T, B and NK cells that results in severe dysfunction of the immune system. SCID is a primary immunodeficiency. SCID was thought to be a rare disorder but with the advent of neonatal screening the incidence in the US general population is estimated at ~1 in 58,000 live births, but with numbers higher or lower depending on the specific population. Patients often have failure to thrive, oral candidiasis, and diarrhea as infants as well as a variety of infectious diseases. They can also have interstit...
Source: PediatricEducation.org - December 3, 2018 Category: Pediatrics Authors: pediatriceducationmin Tags: Uncategorized Source Type: news

What is the Developmental Outcomes of Patients with 22q11 Deletion Sequence?
Discussion 22q11.2 deletion sequence (22q11) is the most common micro-deletion syndrome. Most deletions are de novo. It affects ~1 in 2000-4000 live births. As it is autosomal, it affects males and females equally. Childhood mortality is low and often associated with congenital heart defects. Its phenotypic expression is highly variable. Some of the most common medical problems are: Congenital heart defects especially conotruncal abnormalities Palatal problems especially velopharyngeal incompetence and/or cleft lip/palate Immunodeficiency especially T-cell lymphopenia, but also abnormalities of IgG production, autoimmu...
Source: PediatricEducation.org - June 11, 2018 Category: Pediatrics Authors: pediatriceducationmin Tags: Uncategorized Source Type: news